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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2259395250
Gene: NR1D1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.40099150_40099151delinsGC , CM000679.2:g.40099150_40099151delinsGC
GRCh38
NC_000017.10:g.38255403_38255404delinsGC , CM000679.1:g.38255403_38255404delinsGC
GRCh37
NC_000017.9:g.35508929_35508930delinsGC
NCBI36
NG_033084.1:g.6575_6576delinsGC
Transcript Alleles
HGVS
Amino-acid Change
ENST00000246672.4:c.31+913_31+914delinsGC
MANE Select
ENSP00000246672.3:n.31+913_31+914delinsGC
ENST00000246672.3:c.31+913_31+914delinsGC
ENSP00000246672.3:n.31+913_31+914delinsGC
NM_021724.4:c.31+913_31+914delinsGC
NP_068370.1:n.31+913_31+914delinsGC
NM_021724.5:c.31+913_31+914delinsGC
MANE Select
NP_068370.1:n.31+913_31+914delinsGC
Search 100 bp 5'
Search 100 bp 3'